title: Central nervous system malformations in ethylmalonic encephalopathy.
abstract: Central nervous system malformations have been reported in a number of inherited enzyme defects. Ethylmalonic encephalopathy, an organic aciduria of unknown pathogenesis, has not been reported previously in association with brain or spinal cord malformations. We report on 2 sibs with confirmed ethylmalonic encephalopathy and malformations of the central nervous system; one with tethered cord, the other with cerebellar tonsillar ectopia (Chiari I malformation).
authors.affiliation: Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada. nowaczyk@fhs.mcmaster.ca
authors.forename: M J
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: S I
authors.initials: SI
authors.lastname: Blaser
authors.forename: J T
authors.initials: JT
authors.lastname: Clarke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D013131:Spine / Q000002:abnormalities*; D013386:Succinates / Q000652:urine
chemical_list: D008314:Malonates; D013386:Succinates; C038080:ethylmalonic acid; C039138:methylsuccinic acid